1. Genes and Genomic Entities
  2. RMRP

RMRP

RNA component of mitochondrial RNA processing endoribonuclease
OMIM: 157660, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Red RMRP in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Cartilage-hair hypoplasia (MIM:250250) with Hirschsprung disease
Tags
  • locus-type-rna-long-non-coding
Red RMRP in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Curated sources
  • Expert Review Red
Phenotypes
  • Class: miscellaneous
  • Cartilage-hair hypoplasia syndrome
  • Non-hodgkin lymphoma Squamous carcinoma (bcc) Leukemia
Tags
  • locus-type-rna-long-non-coding
Green RMRP in COVID-19 research


Level 2: Viral research
Version 1.146

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Combined B and T cell defect v1.12
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • Combined B and T cell defect v1.12
Phenotypes
  • Short-limbed dwarfism with metaphyseal dysostosis, sparse hair, bone marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine
  • Cartilage hair hypoplasia
  • Cartilage-hair hypoplasia
  • Anauxetic dysplasia 1, 232220
  • Omenn syndrome
  • Cartilage-hair hypoplasia, with or without immunodeficiency
  • Combined immunodeficiencies with associated or syndromic features
Tags
  • locus-type-rna-long-non-coding
Green RMRP in Ectodermal dysplasia


Level 2: Dermatology
Version 4.23
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cartilage-hair hypoplasia 250250
Tags
  • locus-type-rna-long-non-coding
Green RMRP in Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.30

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Cartilage-hair hypoplasia 250250
Tags
  • locus-type-rna-long-non-coding
Green RMRP in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • Combined B and T cell defect v1.12
Phenotypes
  • Anauxetic dysplasia 1, 232220
  • Cartilage-hair hypoplasia, with or without immunodeficiency
  • Cartilage-hair hypoplasia
  • Omenn syndrome
  • Cartilage hair hypoplasia
  • Short-limbed dwarfism with metaphyseal dysostosis, sparse hair, bone marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine
  • Combined immunodeficiencies with associated or syndromic features
Tags
  • locus-type-rna-long-non-coding
Green RMRP in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.123

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Severe congenital neutropenia
  • Cartilage-hair hypoplasia
Tags
  • locus-type-rna-long-non-coding
Green RMRP in Haematological malignancies cancer susceptibility


Level 2: Cancer susceptibility
Version 4.37
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: miscellaneous
  • Cartilage-hair hypoplasia syndrome
  • Non-hodgkin lymphoma Squamous carcinoma (bcc) Leukemia
Tags
  • locus-type-rna-long-non-coding
Green RMRP in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    Phenotypes
    • Cartilage-hair hypoplasia 250250
    • Anauxetic dysplasia 607095
    • Metaphyseal dysplasia without hypotrichosis 250460
    Tags
    • locus-type-rna-long-non-coding
    Green RMRP in Cytopenia - NOT Fanconi anaemia


    Level 2: Haematology
    Version 4.32
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • North West GLH
    • London South GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Cartilage-hair hypoplasia
    • 250250 Cartilage-hair hypoplasia
    • Severe congenital neutropenia
    Tags
    • locus-type-rna-long-non-coding
    Green RMRP in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CARTILAGE-HAIR HYPOPLASIA
    Tags
    • locus-type-rna-long-non-coding
    Green RMRP in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CARTILAGE-HAIR HYPOPLASIA 250250
    Tags
    • locus-type-rna-long-non-coding
    Amber RMRP in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Cartilage-hair hypoplasia, 250250
    • Metaphyseal dysplasia without
    • hypotrichosis, 250460
    • Anauxetic dysplasia, 607095
    Tags
    • locus-type-rna-long-non-coding